Canonical Allele Identifier: CA2577579681
Gene: PTH1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46898058del , CM000665.2:g.46898058del GRCh38
NC_000003.11:g.46939548del , CM000665.1:g.46939548del GRCh37
NC_000003.10:g.46914552del NCBI36
NG_008864.1:g.25313del

Transcript Alleles

HGVS Amino-acid change
ENST00000449590.6:c.425-16del MANE Select ENSP00000402723.1:n.425-16del
ENST00000313049.9:c.425-16del ENSP00000321999.4:n.425-16del
ENST00000418619.5:c.425-16del ENSP00000411424.1:n.425-16del
ENST00000427125.6:c.425-16del ENSP00000400977.2:n.425-16del
ENST00000428220.1:c.425-16del ENSP00000389811.1:n.425-16del
ENST00000430002.6:c.425-16del ENSP00000413774.2:n.425-16del
ENST00000449590.5:c.425-16del ENSP00000402723.1:n.425-16del
ENST00000490109.1:n.445-16del
NM_000316.2:c.425-16del NP_000307.1:n.425-16del
NM_001184744.1:c.425-16del NP_001171673.1:n.425-16del
XM_005265344.2:c.332-16del XP_005265401.1:n.332-16del
XM_011533967.1:c.464-16del XP_011532269.1:n.464-16del
XM_011533968.1:c.446-16del XP_011532270.1:n.446-16del
XM_005265344.3:c.332-16del XP_005265401.1:n.332-16del
XM_011533967.3:c.464-16del XP_011532269.1:n.464-16del
XM_011533968.2:c.446-16del XP_011532270.1:n.446-16del
XM_017006932.2:c.464-16del XP_016862421.1:n.464-16del
XM_017006933.1:c.425-16del XP_016862422.1:n.425-16del
XM_017006934.1:c.464-16del XP_016862423.1:n.464-16del
NM_000316.3:c.425-16del MANE Select NP_000307.1:n.425-16del